Term Name: | glucose transporter type 1 deficiency syndrome 2 |
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Synonyms: | childhood-onset GLUT1 deficiency syndrome 2, dystonia 18, DYT18, GLUT1 deficiency syndrome 2, GLUT1DS2, paroxysmal exercise-induced dyskinesia, paroxysmal exertion-induced dyskinesia, PED |
Definition: | A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. |
Ontology: | Human Disease [DOID:0090045] ( DOID:0090045 ) |